Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701271018 | PAFAH1B1-related lissencephaly | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3701273015 | PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3701275010 | Lissencephaly due to LIS1 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3701279016 | Lissencephaly due to LIS1 mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 769391000241117 | lissencéphalie par mutation de LIS1 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 923191000172110 | lissencephélie associée à PAFAH1B1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 948221000172113 | lissencéphalie par mutation de LIS1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3701276011 | A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lissencephaly due to LIS1 mutation | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Lissencephaly due to LIS1 mutation | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lissencephaly due to LIS1 mutation | est un(e) (attribut) | Congenital anomaly of cerebrum (disorder) | true | Inferred relationship | Some | ||
| Lissencephaly due to LIS1 mutation | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 1 | |
| Lissencephaly due to LIS1 mutation | est un(e) (attribut) | Anomalies of cerebrum | false | Inferred relationship | Some | ||
| Lissencephaly due to LIS1 mutation | est un(e) (attribut) | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Lissencephaly due to LIS1 mutation | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR